Identification of human haploinsufficient genes and their genomic proximity to segmental duplications
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2008111.pdf
Reference25 articles.
1. Feuk L, Carson AR, Scherer SW : Structural variation in the human genome. Nat Rev Genet 2006; 7: 85–97.
2. Cheung J, Estivill X, Khaja R et al: Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence. Genome Biol 2003; 4: 1–10.
3. Bailey JA, Eichler EE : Primate segmental duplications: crucibles of evolution, diversity and disease. Nat Rev Genet 2006; 7: 552–564.
4. Deutschbauer AM, Jaramillo DF, Proctor M et al: Mechanisms of haploinsufficiency revealed by genome-wide profiling in yeast. Genetics 2005; 169: 1915–1925.
5. Sisodiya SM, Ragge NK, Cavalleri GL et al: Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia 2006; 47: 534–542.
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